Generation of two isogenic induced pluripotent stem cell lines from a 1-month-old nemaline myopathy patient harbouring a homozygous recessive c.121C > T (p.Arg39Ter) variant in the ACTA1 gene

• Published in: Stem cell research 2022-08, Vol.63, p.102830-102830, Article 102830
• Main Authors: Suleski, Isabella S., Smith, Robert, Vo, Christina, Scriba, Carolin K., Saker, Safaa, Larmonier, Thierry, Malfatti, Edoardo, Romero, Norma B., Houweling, Peter J., Nowak, Kristen J., Laing, Nigel G., Taylor, Rhonda L., Clayton, Joshua S.
• Format: Article
• Language: English
• ISSN: 1873-5061; 1876-7753
• DOI: 10.1016/j.scr.2022.102830

Nemaline myopathy (NM) is a congenital skeletal muscle disorder that typically results in muscle weakness and the presence of rod-like structures (nemaline bodies) in the sarcoplasma and/or in the nuclei of myofibres. Two induced pluripotent stem cell (iPSC) lines were generated from the lymphoblastoid cells of a 1-month-old male with severe NM caused by a homozygous recessive mutation in the ACTA1 gene (c.121C > T, p.Arg39Ter). The iPSC lines demonstrated typical morphology, expressed pluripotency markers, exhibited trilineage differentiation potential and displayed a normal karyotype. These isogenic lines represent a potential resource to investigate and model recessive ACTA1 disease in a human context.